Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease

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TitreSphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease
Type de publicationJournal Article
Year of Publication2022
AuteursMauhin W, Tebani A, Amelin D, Abily-Donval L, Lamari F, London J, Douillard C, Dussol B, Leguy-Seguin V, Noel E, Masseau A, Lacombe D, Maillard H, Bekri S, Lidove O, Benveniste O
JournalJOURNAL OF CLINICAL MEDICINE
Volume11
Pagination1233
Date PublishedMAR
Type of ArticleArticle
Mots-clésFabry disease, fibrosis, hypertrophic cardiomyopathy, migalastat, Sphingosine-1-phosphate
Résumé

{Fabry disease is an X-linked lysosomal disease in which defects in the alpha-galactosidase A enzyme activity lead to the ubiquitous accumulation of glycosphingolipids. Whereas the classic disease is characterized by neuropathic pain, progressive renal failure, white matter lesions, cerebral stroke, and hypertrophic cardiomyopathy (HCM), the non-classic phenotype, also known as cardiac variant, is almost exclusively characterized by HCM. Circulating sphingosine-1-phosphate (S1P) has controversially been associated with the Fabry cardiomyopathy. We measured serum S1P levels in 41 patients of the FFABRY cohort. S1P levels were higher in patients with a non-classic phenotype compared to those with a classic phenotype (200.3 [189.6-227.9] vs. 169.4 ng/mL [121.1-203.3]
DOI10.3390/jcm11051233